Rare Disease Day 2019

On February 28th 2019, rareDIG played host to students, researchers, physicians, patients and community members in honour of Rare Disease Day. Speakers discussed the many challenges faced by people with rare disease and the success stories that follow; misdiagnoses and diagnostic odysseys are met with empowerment and optimism. In recognizing a collective of individuals focused on rare disease, we took a large step forward in raising awareness among future health care professionals.

 

A night out in support of Rare Disease at McGill's picturesque Moyse Hall Theatre.

 

*Cocktail hour served up great conversation over food and drink - the company of important players in the rare disease space including the many affected by rare disease, advocates, future physicians and researchers.*

 

*TED-like talks take the night away - Five diverse perspectives on the present and future of rare disease.*

 

More than 80 countries take part annually in Rare Disease Day in support of the millions of affected individuals worldwide. rareDIG’s annual Rare Disease Day, held on February 28th, 2019 at McGill University celebrated the over 7,000 rare diseases that we know of, and the many we have yet to discover!

 

Thank you to all those who we part of this very special day.

 

Thank you to all our Volunteers!

The Opening Act

A Collaboration for Change

rareDIG collaborated with Osmosis to produce a special commencement address. Osmosis is a well established source of medical information and is well known to students world-wide. They are a very active member in the rare disease space and we honoured to have debuted our collaborative effort at

Rare Disease Day 2019!

Sponsors

 
Soft Bones Canada

Finding the key to hypophosphatasia.

NRBDO

High quality, effective, accessible, interdisciplinary care for all Canadians affected by rare blood disorders.

Rare Disease Foundation

Working together to transform the lives of those living with rare disease.

Scleroderma Canada

Promoting public awareness, supporting those affected by Scleroderma and funding research to find a cure.

Abbey Catering

From the personal touch of carefully selecting the perfect menu, to ensuring your event is smooth and successful, Abbey Catering’s highest priority is your happiness.

Osmosis

Osmosis is an efficient, enjoyable, and social way to learn.

Meet the Speakers

 

Ian Stedman

“Ian Stedman is an Ontario father who was diagnosed at age 32 with a rare genetic disorder called Muckle-Wells Syndrome. He travelled the long road that many patients with rare disorders travel and understands the struggles of the journey. At the time of his diagnosis, Ian was working as a lawyer in the area of public sector ethics and accountability. His advocacy work started to become all-consuming, so he made the decision to return to graduate school in order to transition his career more towards the health sector. Ian is now completing his PhD in law with a hope to be able to do work that focuses more directly on things that matter most to people living with rare and chronic conditions. Ian’s journey has led to volunteer as a legal memb...

Patient

Dr. Google and the Standard of Care

Dr. Brett Thombs

"Dr. Thombs completed his Ph.D. in clinical psychology at Fordham University in 2004, during which he did his clinical internship training at Weill Cornell Medical College in New York. He was a postdoctoral fellow and instructor at the Johns Hopkins University School of Medicine before coming to McGill in 2006. Dr. Thombs first engaged in rare disease research with the Canadian Scleroderma Research Group, which he joined when he came to McGill due to his experience with burn patients who face many similar challenges. Dr. Thombs is Chair of the Canadian Task Force on Preventive Health Care, Director of the Scleroderma Patient-centered Intervention Network (SPIN) and Director of the DEPRESsion Screening Data (DEPRESSD) Project. Dr. Thombs ha...

Researcher

The Scleroderma Patient-Centered Intervention Network (SPIN)

Dr. Mousumi Bose

"Dr. Mousumi Bose is the mother of Ilan Betzer (2010-2011), who was born with Zellweger spectrum disorder (ZSD), a rare, life-limiting peroxisome disorder. As a result of her experience, Dr. Bose re-focused her career goals to study rare disease. With the support of the Global Foundation for Peroxisomal Disorders, a ZSD advocacy group, Dr. Bose contributed to the first published treatment guidelines for ZSD. Currently, she holds a faculty position in the Department of Nutrition and Food Studies at Montclair State University, NJ, studying quality of life in rare disease families. Dr. Bose is passionate about learning what is important to rare disease families and using that information to help improve their lives."

Advocate

Understanding Rare Disease: Learning Through Listening

Dr. John Mitchell

"Dr. John Mitchell completed medical school at the University of British Columbia and his pediatric and endocrine fellowship at McGill University. He went on to complete a research fellowship in metabolic disease in Sydney Australia. He is currently the director of pediatric endocrinology at the Montreal Children’s Hospital. In addition to his pediatric endocrinology practice, he practices as a biochemical geneticist where he follows both adult and pediatric patients with metabolic disorders. He has been extensively involved in development of national and international clinical practice guidelines for phenylketonuria, Morquio A, Maroteaux-Lamy and Hunter syndrome. He is involved in cutting edge therapies for orphan diseases including...

Clinician

Treatment in Lysosomal Storage Diseases: A Shift in Paradigm?

Dr. Nada Jabado

"Dr. Nada Jabado is a Professor of Pediatrics at McGill University and pediatric neuro-oncologist at the Montreal Children’s Hospital. She also obtained a PhD in Immunology in Paris, France, followed by a postdoctoral fellowship in biochemistry at McGill. She began her career as an independent investigator at McGill in 2003, pioneering a research program in pediatric brain tumors which is now unparalleled. Her group uncovered that pediatric high-grade astrocytomas (HGA) are molecularly and genetically distinct from adult tumors. More importantly, they identified a new molecular mechanism driving pediatric HGA, namely recurrent somatic driver mutations in the tail of histone 3 variants (H3.3 and H3.1). Dr. Jabado's ground-breaking work ha...

Researcher

“Oncohistones“ in Cancer: How to Turn the Cell’s Symphony Into Non-Harmonic Rap

 

Media

Reviews

I liked the variety of speaker backgrounds! And the pre talk snacks :)

I really enjoyed the talking and mingling and getting to interact with the speakers (as well as the food!) before the talks began.

I liked the patient and caregiver's personal stories; but also researcher's stories as well.

The range in expertise and experiences - they complimented each other nicely

Awesome variety of speakers, food was amazing, the whole atmosphere was really cool.

© 2020 rareDIG McGill

Last Updated: September 7th, 2020

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